HPO annotations distribution

HP Patient percentage
Abdominal aortic aneurysm 5.0
Abnormal systemic arterial morphology 10.0
Vascular dilatation 5.0
All 100.0
Abnormal aortic morphology 10.0
Abnormality of the vasculature 20.0
Abnormality of the cardiovascular system 25.0
Abnormal morphology of the great vessels 20.0
Abnormal vascular morphology 20.0
Aortic aneurysm 5.0
Phenotypic abnormality 100.0
Abnormal blood vessel morphology 20.0
Abnormal cardiovascular system morphology 25.0
Cryptorchidism 20.0
Hydroureter 5.0
Hydronephrosis 10.0
Xerostomia 5.0
Pectus excavatum 5.0
Pectus carinatum 10.0
Congenital hip dislocation 5.0
Oligohydramnios 5.0
Patent ductus arteriosus 5.0
Talipes equinovarus 10.0
Anal atresia 5.0
Prune belly 5.0
Aplasia of the abdominal wall musculature 5.0
Congenital posterior urethral valve 5.0
Slow pupillary light response 5.0
Abnormal pelvic girdle bone morphology 15.0
Abnormal skeletal muscle morphology 5.0
Abnormality of the lower urinary tract 10.0
Abnormal renal morphology 15.0
Abnormality of the upper urinary tract 15.0
Abnormality of salivation 5.0
Abnormality of the skeletal system 55.00000000000001
Abnormality of head or neck 60.0
Urethral obstruction 5.0
Abnormality of the mouth 40.0
Abnormal external genitalia 20.0
Abnormal thorax morphology 15.0
Abnormality of the genital system 25.0
Abnormal joint morphology 30.0
Abnormality of the ureter 5.0
Abnormality of the male genitalia 20.0
Hip dysplasia 5.0
Positional foot deformity 10.0
Aplasia/Hypoplasia of the abdominal wall musculature 5.0
Urethrovesical occlusion 5.0
Abnormality of the eye 45.0
Abnormality of the lower limb 45.0
Abnormality of lower limb joint 10.0
Abnormality of the kidney 15.0
Lower extremity joint dislocation 5.0
Abnormal digestive system morphology 10.0
Abnormality of the abdominal wall 5.0
Abnormality of the face 55.00000000000001
Urethral valve 5.0
Abnormal skeletal morphology 55.00000000000001
Abnormal reproductive system morphology 25.0
Abnormal anus morphology 10.0
Abnormal morphology of the abdominal musculature 5.0
Dilatation of the renal pelvis 10.0
Abnormality of the genitourinary system 25.0
Abnormality of the musculature 15.0
Abnormal pupillary light reflex 5.0
Abnormal eye physiology 40.0
Abnormal testis morphology 20.0
Abnormal foot morphology 40.0
Abnormality of the digestive system 15.0
Abnormal hip joint morphology 5.0
Abnormal male external genitalia morphology 20.0
Abnormality of the amniotic fluid 15.0
Abnormality of the urethra 10.0
Talipes 10.0
Abnormality of limbs 60.0
Abnormal hip bone morphology 5.0
Abnormality of the musculoskeletal system 55.00000000000001
Joint dislocation 10.0
Congenital malformation of the great arteries 10.0
Abnormality of the urinary system 20.0
Hip dislocation 5.0
Abnormal axial skeleton morphology 55.00000000000001
Abnormal sternum morphology 10.0
Abnormal appendicular skeleton morphology 50.0
Abnormal pupillary function 5.0
Abnormality of prenatal development or birth 15.0
Abnormality of the anus 10.0
Abnormal renal pelvis morphology 10.0
Abnormal oral physiology 5.0
Abnormal ureter morphology 5.0
Abnormality of the head 60.0
Strabismus 30.0
Abducens palsy 5.0
Abnormal cranial nerve physiology 5.0
Abnormality of the nervous system 50.0
Abnormal nervous system physiology 45.0
Cranial nerve paralysis 5.0
Abnormality of eye movement 30.0
Abnormal conjugate eye movement 30.0
Cleft palate 20.0
Cleft upper lip 5.0
Microcephaly 10.0
Esotropia 5.0
Microphthalmia 5.0
Hypertension 5.0
Cutis marmorata 5.0
Brachydactyly 25.0
Intellectual disability 30.0
Seizure 10.0
Global developmental delay 10.0
Generalized hypotonia 5.0
Pachygyria 5.0
Calvarial skull defect 5.0
Alopecia 5.0
Ventricular septal defect 10.0
Atrial septal defect 5.0
Tetralogy of Fallot 5.0
Pulmonic stenosis 5.0
Bicuspid aortic valve 5.0
Aortic valve stenosis 5.0
Toe syndactyly 20.0
Small nail 5.0
Hypoplasia of the corpus callosum 10.0
Encephalocele 5.0
Pulmonary arterial hypertension 5.0
Ventriculomegaly 10.0
Polymicrogyria 5.0
Cortical dysplasia 5.0
Supernumerary nipple 5.0
Hypoplastic left heart 5.0
Pulmonary artery stenosis 5.0
Periventricular leukomalacia 5.0
Aplasia cutis congenita on trunk or limbs 5.0
Aplasia cutis congenita over posterior parietal area 5.0
Imperforate hymen 5.0
Aplasia/Hypoplasia of the corpus callosum 15.0
Abnormal corpus callosum morphology 15.0
Conotruncal defect 5.0
Abnormal toe morphology 25.0
Abnormal periventricular white matter morphology 5.0
Abnormal respiratory system morphology 20.0
Cleft lip 5.0
Abnormal skull morphology 50.0
Abnormal cerebral subcortex morphology 15.0
Abnormality of globe size 10.0
Abnormality of the breast 15.0
Abnormal vascular physiology 5.0
Orofacial cleft 20.0
Abnormal cardiac ventricle morphology 10.0
Abnormality of pulmonary circulation 5.0
Aplasia/Hypoplasia of the cerebrum 15.0
Abnormal atrial septum morphology 5.0
Abnormality of the pulmonary artery 5.0
Abnormal internal genitalia 10.0
Neurodevelopmental delay 15.0
Esodeviation 5.0
Cephalocele 5.0
Abnormal connection of the cardiac segments 5.0
Abnormal cerebral morphology 20.0
Abnormal ventriculoarterial connection 5.0
Localized skin lesion 35.0
Abnormal neural tube morphology 10.0
Abnormal calvaria morphology 40.0
Aplasia cutis congenita 5.0
Abnormal lung morphology 10.0
Abnormal oral morphology 35.0
Abnormal limb bone morphology 45.0
Abnormal nipple morphology 10.0
Abnormal muscle physiology 10.0
Abnormality of the skin 55.00000000000001
Abnormal forebrain morphology 20.0
Abnormality of the female genitalia 10.0
Neurodevelopmental abnormality 35.0
Abnormal cortical gyration 5.0
Elevated pulmonary artery pressure 5.0
Abnormal muscle tone 10.0
Abnormality of neuronal migration 5.0
Abnormal ventricular septum morphology 10.0
Neural tube defect 10.0
Abnormal vagina morphology 10.0
Abnormal palate morphology 25.0
Abnormal aortic valve morphology 5.0
Abnormal pulmonary artery morphology 5.0
Abnormal eye morphology 30.0
Abnormal skin morphology 50.0
Abnormal heart valve morphology 5.0
Aplasia/Hypoplasia affecting the eye 5.0
Hypotonia 10.0
Abnormal hair morphology 25.0
Abnormality of the respiratory system 20.0
Pre-capillary pulmonary hypertension 5.0
Abnormal brain morphology 30.0
Abnormality of the integument 65.0
Vascular skin abnormality 5.0
Abnormal oral cavity morphology 35.0
Aplasia/Hypoplasia involving the central nervous system 15.0
Open neural tube defect 5.0
Abnormal respiratory system physiology 20.0
Abnormal skin adnexa morphology 30.0
Abnormal systemic blood pressure 5.0
Abnormal breast morphology 15.0
Abnormality of the pulmonary vasculature 5.0
Abnormal hair quantity 10.0
Lissencephaly 5.0
Abnormality of limb bone 45.0
Abnormal cardiovascular system physiology 5.0
Abnormal lip morphology 15.0
Abnormal heart morphology 15.0
Abnormality of skull size 15.0
Aplasia cutis congenita of scalp 5.0
Generalized abnormality of skin 5.0
Increased blood pressure 5.0
Aplasia/Hypoplasia of the skin 5.0
Abnormal pulmonary valve physiology 5.0
Abnormal cerebral white matter morphology 15.0
Abnormal nervous system morphology 35.0
Decreased head circumference 10.0
Abnormal digit morphology 45.0
Abnormal cerebral cortex morphology 10.0
Abnormal heart valve physiology 5.0
Short digit 30.0
Abnormal cerebral ventricle morphology 25.0
Abnormal cardiac atrium morphology 5.0
Morphological central nervous system abnormality 35.0
Heterotropia 5.0
Thin corpus callosum 15.0
Abnormal cardiac septum morphology 10.0
Abnormal aortic valve physiology 5.0
Abnormal morphology of female internal genitalia 10.0
Leukoencephalopathy 5.0
Abnormal upper lip morphology 15.0
Craniofacial cleft 20.0
Congenital malformation of the left heart 5.0
Aplasia cutis congenita over parietal area 5.0
Abnormality of mental function 35.0
Abnormal aortic valve cusp morphology 5.0
Syndactyly 20.0
Abnormality of the nail 10.0
Hypoplastic heart 5.0
Aplasia/Hypoplasia of the nails 5.0
Acanthosis nigricans 5.0
Epidermal thickening 15.0
Thickened skin 15.0
Brachycephaly 25.0
Micrognathia 15.0
Arachnodactyly 5.0
Joint hypermobility 15.0
Broad skull 5.0
Abnormal jaw morphology 40.0
Aplasia/Hypoplasia of the mandible 15.0
Long fingers 10.0
Abnormality of the upper limb 50.0
Abnormal joint physiology 30.0
Abnormal mandible morphology 35.0
Abnormality of the hand 50.0
Abnormal finger morphology 35.0
Aplasia/Hypoplasia involving bones of the skull 15.0
Slender finger 5.0
Aplasia/hypoplasia affecting bones of the axial skeleton 25.0
Abnormality of joint mobility 30.0
Abnormal facial skeleton morphology 45.0
Abnormal musculoskeletal physiology 35.0
Aplasia/hypoplasia involving the skeleton 40.0
Hydrocephalus 20.0
Macrocephaly 5.0
Malar flattening 20.0
Recurrent otitis media 5.0
Conductive hearing impairment 5.0
Choanal stenosis 15.0
Short ribs 5.0
Motor delay 5.0
Megalencephaly 10.0
Limited elbow extension 5.0
Polyhydramnios 10.0
Premature rupture of membranes 5.0
Frontal bossing 10.0
Pulmonary hypoplasia 5.0
Respiratory distress 5.0
Brain stem compression 5.0
Small foramen magnum 5.0
Generalized joint hypermobility 5.0
Upper airway obstruction 5.0
Lumbar hyperlordosis 5.0
Genu varum 5.0
Femoral bowing 5.0
Radial bowing 5.0
Flared metaphysis 5.0
Ulnar bowing 5.0
Limited hip extension 5.0
Short femur 5.0
Narrow greater sciatic notch 5.0
Trident hand 5.0
Severe platyspondyly 5.0
Thoracic hypoplasia 5.0
Depressed nasal bridge 20.0
Spinal stenosis with reduced interpedicular distance 5.0
Lumbar kyphosis in infancy 5.0
Narrow vertebral interpedicular distance 10.0
Rhizomelia 10.0
Neonatal short-limb short stature 5.0
Infantile muscular hypotonia 5.0
Midface retrusion 15.0
Feeding difficulties 5.0
Short femoral neck 5.0
Abnormal forearm morphology 25.0
Hearing abnormality 25.0
Limb undergrowth 10.0
Aplasia/Hypoplasia involving bones of the thorax 5.0
Abnormal lung development 5.0
Abnormal pattern of respiration 5.0
Abnormal midface morphology 25.0
Abnormal knee morphology 5.0
Abnormal femoral neck morphology 5.0
Abnormal long bone morphology 30.0
Abnormality of the ear 25.0
Abnormal frontal bone morphology 10.0
Short stature 25.0
Metaphyseal widening 5.0
Abnormality of digestive system physiology 5.0
Abnormal greater sciatic notch morphology 5.0
Abnormal forearm bone morphology 25.0
Unusual infection 5.0
Abnormal middle ear morphology 10.0
Abnormality of upper limb joint 25.0
Otitis media 10.0
Abnormality of immune system physiology 15.0
Abnormal lumbar spine morphology 5.0
Disproportionate short-limb short stature 15.0
Hearing impairment 25.0
Abnormal curvature of the vertebral column 10.0
Hyperlordosis 5.0
Abnormality of the elbow 20.0
Abnormal delivery 5.0
Abnormal diaphysis morphology 5.0
Increased head circumference 5.0
Abnormality of the immune system 15.0
Bowed forearm bones 5.0
Recurrent infections 5.0
Aplasia/Hypoplasia involving the femoral head and neck 5.0
Abnormal rib morphology 5.0
Abnormal zygomatic bone morphology 20.0
Aplasia/hypoplasia of the femur 5.0
Bowing of the legs 5.0
Abnormal ear physiology 25.0
Platyspondyly 5.0
Abnormal nasal morphology 35.0
Abnormal rib cage morphology 5.0
Abnormal brainstem morphology 5.0
Aplasia/Hypoplasia involving the pelvis 5.0
Limited elbow movement 10.0
Abnormal foramen magnum morphology 5.0
Aplasia/Hypoplasia of the ribs 5.0
Abnormal femur morphology 5.0
Aplasia/hypoplasia of the extremities 35.0
Spinal canal stenosis 10.0
Abnormal cerebrospinal fluid morphology 20.0
Lumbar kyphosis 5.0
Increased inflammatory response 10.0
Abnormality of the middle ear 10.0
Short long bone 15.0
Abnormal shape of the frontal region 10.0
Abnormal upper limb bone morphology 30.0
Vertebral arch anomaly 10.0
Abnormality of the nose 35.0
Dyspnea 5.0
Bowing of the arm 5.0
Abnormal morphology of ulna 10.0
Abnormal femoral neck/head morphology 5.0
Aplasia/Hypoplasia of the lungs 5.0
Abnormality of the knee 5.0
Abnormal choanae morphology 15.0
Abnormality of body height 30.0
Functional abnormality of the middle ear 5.0
Abnormal inflammatory response 10.0
Abnormal shape of the radius 5.0
Airway obstruction 5.0
Abnormality of the vertebral column 15.0
Limited hip movement 5.0
Abnormality of the calf 5.0
Abnormal vertebral morphology 15.0
Abnormal nasal bridge morphology 20.0
Abnormal form of the vertebral bodies 10.0
Growth abnormality 35.0
Limitation of joint mobility 15.0
Bowing of the long bones 5.0
Disproportionate short stature 15.0
Abnormal morphology of the radius 25.0
Growth delay 25.0
Abdominal symptom 5.0
Abnormal metaphysis morphology 5.0
Aplasia/hypoplasia involving bones of the lower limbs 20.0
Abnormality of the forehead 25.0
Abnormal ear morphology 20.0
Aplasia/hypoplasia involving bones of the extremities 30.0
Abnormal lower limb bone morphology 20.0
Paroxysmal sneezing 5.0
Constitutional symptom 5.0
Sneeze 5.0
Tinnitus 5.0
Visual loss 5.0
Diplopia 5.0
Personality changes 5.0
Cafe-au-lait spot 5.0
Axillary freckling 5.0
Neurofibroma 5.0
Ataxia 5.0
Headache 5.0
Vertigo 5.0
Ependymoma 5.0
Juvenile posterior subcapsular lenticular opacities 5.0
Bilateral vestibular schwannoma 5.0
Unilateral vestibular schwannoma 5.0
Astrocytoma 5.0
Peripheral schwannoma 5.0
Retinal hamartoma 5.0
Lisch nodules 5.0
Peripheral neuropathy 5.0
Inguinal freckling 5.0
Epiretinal membrane 5.0
Cortical cataract 5.0
Optic nerve sheath meningioma 5.0
Abnormal retinal morphology 5.0
Neoplasm of the ear 5.0
Abnormal macular morphology 5.0
Benign neoplasm of the central nervous system 5.0
Hamartoma of the orbital region 5.0
Sarcoma 5.0
Visual impairment 5.0
Abnormal peripheral nervous system morphology 5.0
Subcapsular cataract 5.0
Abnormal glial cell morphology 5.0
Fibrous tissue neoplasm 5.0
Abnormal meningeal morphology 10.0
Abnormal uvea morphology 10.0
Abnormal cranial nerve morphology 5.0
Posterior subcapsular cataract 5.0
Hamartoma 5.0
Zonular cataract 5.0
Impairment in personality functioning 5.0
Macular thickening 5.0
Neuroepithelial neoplasm 5.0
Abnormality of coordination 5.0
Vestibular schwannoma 5.0
Glioma 5.0
Hamartoma of the eye 5.0
Abnormality of skin pigmentation 15.0
Hyperpigmentation of the skin 5.0
Neoplasm by anatomical site 10.0
Meningioma 5.0
Atypical behavior 5.0
Irregular hyperpigmentation 5.0
Abnormal anterior eye segment morphology 15.0
Iris nodule 5.0
Neoplasm of the skin 5.0
Neoplasm of the inner ear 5.0
Nervous tissue neoplasm 5.0
Neoplasm of the eye 5.0
Neuroectodermal neoplasm 5.0
Abnormal central motor function 5.0
Abnormal vestibular function 5.0
Abnormality of the vestibulocochlear nerve 5.0
Soft tissue sarcoma 5.0
Abnormal fundus morphology 10.0
Hypermelanotic macule 5.0
Cataract 5.0
Neoplasm of the central nervous system 5.0
Neoplasm of the nervous system 5.0
Fibroma 5.0
Abnormal lens morphology 5.0
Abnormality of the orbital region 35.0
Macule 5.0
Freckling 5.0
Neoplasm of the peripheral nervous system 5.0
Functional abnormality of the inner ear 5.0
Abnormal astrocyte morphology 5.0
Neoplasm 10.0
Malignant neoplasm of the central nervous system 5.0
Abnormality of the inner ear 5.0
Abnormality of vision 5.0
Abnormality iris morphology 10.0
Abnormality of binocular vision 5.0
Schwannoma 5.0
Abnormal posterior eye segment morphology 10.0
Neoplasm by histology 5.0
Vaginal atresia 5.0
Narrow palate 10.0
Bifid uvula 5.0
High palate 10.0
Thin upper lip vermilion 5.0
Large fontanelles 5.0
Brachyturricephaly 10.0
Delayed cranial suture closure 10.0
Mandibular prognathia 20.0
Hypertelorism 20.0
Broad forehead 5.0
High forehead 10.0
Posteriorly rotated ears 5.0
Low-set ears 10.0
Chronic otitis media 5.0
Choanal atresia 10.0
Anteverted nares 10.0
Downslanted palpebral fissures 15.0
Myopia 5.0
Shallow orbits 15.0
Delayed eruption of teeth 10.0
Dental malocclusion 10.0
Hyperhidrosis 5.0
Acne 5.0
Postaxial hand polydactyly 5.0
Preaxial hand polydactyly 5.0
Agenesis of corpus callosum 5.0
Cerebellar hypoplasia 10.0
Absent septum pellucidum 5.0
Pyloric stenosis 5.0
Esophageal atresia 5.0
Overriding aorta 5.0
Delayed epiphyseal ossification 5.0
Humeroradial synostosis 10.0
Ectopic anus 5.0
Coronal craniosynostosis 15.0
Sagittal craniosynostosis 5.0
Lambdoidal craniosynostosis 10.0
Anomalous tracheal cartilage 5.0
Acrobrachycephaly 5.0
Cervical C5/C6 vertebrae fusion 5.0
Rhizomelic arm shortening 5.0
Synostosis of carpal bones 5.0
Wide intermamillary distance 5.0
Chiari type I malformation 5.0
Posterior fossa cyst 5.0
Abnormal morphology of the limbic system 5.0
Broad distal hallux 5.0
Broad distal phalanx of the thumb 5.0
Cutaneous finger syndactyly 5.0
Cutaneous syndactyly of toes 10.0
Prominent forehead 5.0
Flat face 10.0
Arachnoid cyst 5.0
Abnormality of the humeroradial joint 15.0
Duplication of bones involving the upper extremities 10.0
Abnormal eyelid morphology 25.0
Synostosis involving the elbow 10.0
Abnormal stomach morphology 5.0
Carpal synostosis 5.0
Synostosis of joints 15.0
Abnormal distal phalanx morphology of finger 10.0
Abnormality of thumb phalanx 10.0
Abnormal finger phalanx morphology 20.0
Duplication of hand bones 10.0
Abnormal epiphyseal ossification 10.0
Abnormal carpal morphology 5.0
Broad hallux 10.0
Abnormal arachnoid mater morphology 5.0
Vertebral segmentation defect 5.0
Aplasia/Hypoplasia of the cerebellum 10.0
Abnormality of globe location 20.0
Abnormality of cranial sutures 15.0
Abnormal hindbrain morphology 15.0
Polydactyly 10.0
Abnormal cerebellum morphology 15.0
Abnormal pinna morphology 10.0
Abnormality of dental eruption 10.0
Broad phalanx 10.0
Preaxial polydactyly 5.0
Abnormal uvula morphology 5.0
Abnormal ocular adnexa morphology 30.0
Hypohidrosis or hyperhidrosis 5.0
Proptosis 15.0
Abnormality of the palpebral fissures 20.0
Abnormal hand morphology 35.0
Abnormality of the distal phalanx of the thumb 5.0
Abnormal gastrointestinal tract morphology 5.0
Genital tract atresia 5.0
Abnormal morphology of the nasal alae 15.0
Abnormal epiphysis morphology 10.0
Abnormality of the gastrointestinal tract 5.0
Finger syndactyly 10.0
Duplication of phalanx of hand 10.0
Broad toe 10.0
Broad finger 10.0
Tooth malposition 15.0
Fused cervical vertebrae 5.0
Thin vermilion border 5.0
Abnormality of fontanelles 5.0
Abnormal posterior cranial fossa morphology 10.0
Abnormality of the humerus 10.0
Abnormality of the ocular adnexa 30.0
Abnormal septum pellucidum morphology 5.0
Abnormality of skin physiology 5.0
Broad distal phalanx of finger 5.0
Central nervous system cyst 5.0
Inflammatory abnormality of the skin 5.0
Abnormality of the dentition 20.0
Hand polydactyly 10.0
Abnormal tracheal morphology 10.0
Abnormality of upper lip vermillion 5.0
Abnormal thumb morphology 10.0
Abnormality of skin adnexa physiology 5.0
Abnormal 5th finger morphology 10.0
Abnormality of the wrist 5.0
Abnormal bone structure 15.0
Synostosis of carpals/tarsals 5.0
Abnormal nostril morphology 10.0
Abnormal tracheobronchial morphology 10.0
Abnormal metencephalon morphology 15.0
Abnormal soft palate morphology 5.0
Vertebral fusion 5.0
Abnormal enchondral ossification 10.0
Postaxial polydactyly 5.0
Turricephaly 15.0
Abnormal facial shape 10.0
Cerebellar malformation 10.0
Abnormality of refraction 5.0
Broad phalanges of the hand 10.0
Synostosis involving bones of the upper limbs 15.0
Abnormality of the fontanelles or cranial sutures 15.0
Slanting of the palpebral fissure 15.0
Abnormal intermamillary distance 5.0
Abnormality of the chin 25.0
Craniosynostosis 15.0
Cutaneous syndactyly 10.0
Chiari malformation 10.0
Broad thumb 10.0
Abnormal bone ossification 10.0
Abnormal skull base morphology 10.0
Broad long bones 10.0
Abnormality of the pylorus 5.0
Abnormal hallux morphology 20.0
Abnormality of the upper arm 10.0
Abnormal esophagus morphology 5.0
Abnormal external nose morphology 20.0
Abnormal morphology of bony orbit of skull 15.0
Abnormal location of ears 10.0
Abnormality of the outer ear 10.0
Synostosis involving bones of the hand 5.0
Intracranial cystic lesion 5.0
Gastrointestinal atresia 5.0
Oxycephaly 5.0
Low anterior hairline 5.0
Facial asymmetry 5.0
Hypoplasia of the maxilla 15.0
Convex nasal ridge 5.0
Narrow nose 5.0
Ptosis 5.0
Buphthalmos 5.0
Abnormal nasolacrimal system morphology 5.0
Plagiocephaly 5.0
Hallux valgus 5.0
Intellectual disability, moderate 5.0
Skull asymmetry 5.0
Parietal foramina 5.0
Radioulnar synostosis 5.0
Breast carcinoma 5.0
Long nose 5.0
Clinodactyly of the 5th finger 5.0
Flat forehead 5.0
Microtia 5.0
Prominent crus of helix 5.0
Partial duplication of the distal phalanx of the 2nd finger 5.0
Partial duplication of the distal phalanx of the 3rd finger 5.0
Absent first metatarsal 5.0
Cleft of chin 5.0
Abnormality of the scalp hair 10.0
Abnormally large globe 5.0
Abnormal nasal dorsum morphology 5.0
Abnormal cartilage morphology 5.0
Partial duplication of the phalanges of the 3rd finger 5.0
Mesoaxial hand polydactyly 5.0
Abnormal 3rd finger morphology 5.0
Absent metatarsal bone 5.0
Developmental glaucoma 5.0
Glaucoma 5.0
Duplication of phalanx of 2nd finger 5.0
Deviation of toes 5.0
Duplication of the distal phalanx of hand 5.0
Aplasia/Hypoplasia involving bones of the feet 15.0
Deviation of the hallux 5.0
Partial duplication of the phalanges of the 2nd finger 5.0
Partial duplication of the distal phalanges of the hand 5.0
Abnormal hair pattern 10.0
Abnormal 2nd finger morphology 5.0
Polydactyly affecting the 2nd finger 5.0
Deviation of finger 5.0
Duplication of the distal phalanx of the 3rd finger 5.0
Aplasia/Hypoplasia of the external ear 5.0
Aplasia/Hypoplasia of the ear 5.0
Congenital abnormal hair pattern 10.0
Abnormality of the distal phalanx of the 3rd finger 5.0
Aplasia/Hypoplasia of metatarsal bones 10.0
Abnormality of the hairline 10.0
Abnormality of cartilage of external ear 5.0
Abnormal parietal bone morphology 5.0
Abnormal helix morphology 5.0
Polydactyly affecting the 3rd finger 5.0
Neoplasm of the breast 5.0
Abnormality of the frontal hairline 10.0
Deviation of the hand or of fingers of the hand 5.0
Ocular anterior segment dysgenesis 5.0
Abnormality of the phalanges of the 2nd finger 5.0
Deviation of the 5th finger 5.0
Partial duplication of the phalanx of hand 5.0
Abnormal metatarsal morphology 10.0
Aplasia/hypoplasia of the 1st metatarsal 5.0
Clinodactyly 5.0
Mesoaxial polydactyly 5.0
Duplication of the distal phalanx of the 2nd finger 5.0
Abnormality of the crus of the helix 5.0
Abnormal 3rd finger phalanx morphology 5.0
Finger clinodactyly 5.0
Abnormality of the distal phalanx of the 2nd finger 5.0
Duplication of phalanx of 3rd finger 5.0
Abnormal scalp morphology 15.0
Abnormality of the first metatarsal bone 5.0
Abnormal maxilla morphology 15.0
Dental crowding 5.0
Cloverleaf skull 5.0
Bronchomalacia 5.0
Elbow ankylosis 5.0
Short nose 5.0
Short middle phalanx of toe 5.0
Tracheal cartilaginous sleeve 5.0
Shortening of all middle phalanges of the fingers 5.0
3-4 toe cutaneous syndactyly 5.0
Abnormal middle phalanx morphology of the hand 5.0
Aplasia/Hypoplasia of fingers 5.0
Short phalanx of finger 10.0
Abnormal bronchus morphology 5.0
Aplasia/Hypoplasia of the middle phalanges of the hand 5.0
Short middle phalanx of finger 5.0
Short finger 5.0
Short toe 5.0
Aplasia/Hypoplasia of the phalanges of the hand 10.0
Aplasia/hypoplasia involving bones of the hand 20.0
Aplasia/Hypoplasia of toe 5.0
Abnormality of the middle phalanges of the toes 5.0
Ankylosis 5.0
Abnormal toe phalanx morphology 5.0
Aplasia/hypoplasia involving bones of the upper limbs 20.0
Unilateral renal agenesis 5.0
Hypogonadism 5.0
Epicanthus 5.0
Broad nasal tip 5.0
Blue irides 5.0
Optic atrophy 5.0
Hypodontia 5.0
Congenital hypothyroidism 5.0
Irregular menstruation 5.0
Melanocytic nevus 5.0
Broad palm 5.0
Intrauterine growth retardation 10.0
Small for gestational age 5.0
Mild postnatal growth retardation 5.0
Long hallux 5.0
Scoliosis 5.0
Hyperphosphatemia 5.0
Elevated circulating thyroid-stimulating hormone concentration 5.0
Dislocated radial head 5.0
Elevated circulating parathyroid hormone level 5.0
Elevated circulating calcitonin concentration 5.0
Short palm 10.0
Calvarial hyperostosis 5.0
Accelerated skeletal maturation 5.0
Neonatal epiphyseal stippling 5.0
Hypoplastic vertebral bodies 5.0
Short metacarpal 10.0
Cone-shaped epiphyses of the phalanges of the hand 5.0
Short metatarsal 5.0
Mild global developmental delay 5.0
Decreased growth hormone responses to growth hormone-releasing hormone challenge 5.0
Abnormal female reproductive system physiology 5.0
Abnormal nasal tip morphology 10.0
Vertebral hypoplasia 5.0
Abnormal blood ion concentration 5.0
Abnormality of metabolism/homeostasis 5.0
Abnormal metacarpal morphology 10.0
Abnormality of the thyroid gland 5.0
Renal hypoplasia/aplasia 5.0
Abnormal thyroid-stimulating hormone level 5.0
Anterior hypopituitarism 5.0
Decreased body weight 5.0
Abnormal hand epiphysis morphology 5.0
Abnormal epiphysis morphology of the phalanges of the hand 5.0
Abnormality of body weight 10.0
Decreased response to growth hormone stimulation test 5.0
Nevus 5.0
Abnormal number of teeth 5.0
Abnormal circulating hormone concentration 5.0
Cone-shaped epiphysis 5.0
Aplasia/Hypoplasia involving the metacarpal bones 10.0
Aplasia/Hypoplasia involving the vertebral column 5.0
Upper extremity joint dislocation 5.0
Abnormal palm morphology 15.0
Abnormal circulating calcium-phosphate regulating hormone concentration 5.0
Abnormality of thyroid physiology 5.0
Ectopic calcification 5.0
Puberty and gonadal disorders 5.0
Abnormality of the hypothalamus-pituitary axis 5.0
Abnormality of the anterior pituitary 5.0
Abnormality of skeletal maturation 5.0
Postnatal growth retardation 5.0
Abnormal optic disc morphology 5.0
Abnormality of the endocrine system 5.0
Abnormal upper limb epiphysis morphology 5.0
Abnormal pituitary gland morphology 5.0
Aplasia/Hypoplasia of the vertebrae 5.0
Abnormal limb epiphysis morphology 5.0
Epiphyseal stippling 5.0
Abnormality of reproductive system physiology 5.0
Abnormal circulating calcitonin concentration 5.0
Hyperostosis 5.0
Abnormality of the radial head 5.0
Phalangeal cone-shaped epiphyses 5.0
Hypopituitarism 5.0
Hypothyroidism 5.0
Renal agenesis 5.0
Abnormal blood phosphate concentration 5.0
Abnormal endocrine physiology 5.0
Abnormal response to endocrine stimulation test 5.0
Elbow dislocation 5.0
Abnormality of the menstrual cycle 5.0
Tooth agenesis 5.0
Abnormal optic nerve morphology 5.0
Abnormal iris pigmentation 5.0
Long toe 5.0
Abnormal circulating metabolite concentration 5.0
Acute phase response 5.0
Cranial hyperostosis 5.0
Hypospadias 5.0
Widow's peak 5.0
Prominent nose 5.0
Webbed neck 5.0
Carious teeth 5.0
Single transverse palmar crease 5.0
Cerebellar vermis hypoplasia 5.0
Cerebral cortical atrophy 5.0
Enlarged cisterna magna 5.0
Spina bifida occulta 5.0
Preauricular pit 5.0
Mandibulofacial dysostosis 5.0
Aplasia/Hypoplasia of the cerebellar vermis 5.0
Abnormal male urethral meatus morphology 5.0
Abnormal dermatoglyphics 5.0
Abnormal neck morphology 5.0
Abnormal spinal cord morphology 5.0
High anterior hairline 5.0
Abnormal skin morphology of the palm 10.0
Skin pit 5.0
Cerebral atrophy 5.0
Brain atrophy 5.0
Periauricular skin pits 5.0
Abnormal cerebellar vermis morphology 5.0
Regional abnormality of skin 15.0
Abnormal palmar dermatoglyphics 5.0
Spinal dysraphism 5.0
Atrophy/Degeneration affecting the cerebrum 5.0
Abnormality of the neck 5.0
Atrophy/Degeneration affecting the central nervous system 5.0
Abnormality of the palmar creases 5.0
Craniofacial dysostosis 5.0
Abnormal penis morphology 5.0
Abnormality of dental structure 5.0
Enlarged posterior fossa 5.0
Abnormal cheek morphology 5.0
Displacement of the urethral meatus 5.0
Spina bifida 5.0
Abnormal periauricular region morphology 5.0
Fine hair 5.0
Allergy 5.0
Papule 10.0
Skin plaque 5.0
Abnormality of hair texture 5.0
Immunologic hypersensitivity 5.0
Hyperkeratosis 10.0
Acrokeratosis 10.0
Skin nodule 10.0
Ridged nail 5.0
Punctate palmoplantar hyperkeratosis 5.0
Verrucous papule 5.0
Epidermal acanthosis 5.0
Acantholysis 5.0
Palmar hyperkeratosis 5.0
Nail dysplasia 5.0
Abnormality of the plantar skin of foot 5.0
Plantar hyperkeratosis 5.0
Palmoplantar hyperkeratosis 5.0
Abnormal epidermal morphology 5.0
Symmetric great toe depigmentation 5.0
Tall stature 5.0
Soft skin 5.0
Large hands 10.0
Long foot 5.0
Cutis gyrata of scalp 5.0
Periostosis 5.0
Abnormal periosteum morphology 5.0
Abnormal elasticity of skin 5.0
Sloping forehead 5.0
Bulbous nose 5.0
Telecanthus 5.0
Blepharophimosis 5.0
Synophrys 5.0
Tapered finger 5.0
Specific learning disability 5.0
Large for gestational age 5.0
Deep philtrum 5.0
Highly arched eyebrow 5.0
Thickened calvaria 5.0
Thick nasal alae 5.0
Short 5th metacarpal 5.0
Thick vermilion border 5.0
Abnormal 5th metacarpal morphology 5.0
Hypertrichosis 5.0
Increased body weight 5.0
Abnormal eyebrow morphology 5.0
Abnormal size of the palpebral fissures 5.0
Facial hypertrichosis 5.0
Abnormality of the philtrum 5.0
Aplasia/Hypoplasia of the 5th metacarpal 5.0

Ontoplot. Different calls examples (Click me)

Dynamic ontoplot, frequency by size and opacity, opacity low values fixed by cubic root, guide lines set by ontology term points
plotter.ontoplot(ontology="ontology", root_node="HP:0000118", reference_node="HP:0000118", dpi = 300, height=800, width=800, title=f"Profiles signature", mode = "dynamic", freq_by="both", fix_alpha="cubic_root", guide_lines="ont")

Dynamic ontoplot, frequency by size, guide lines set by concentric lines at each level of the ontology
plotter.ontoplot(ontology="ontology", root_node="HP:0000118", reference_node="HP:0000118", dpi = 300, height=800, width=800, title=f"Profiles signature", mode = "dynamic", freq_by="size", fix_alpha="none", guide_lines="grid")

Dynamic ontoplot, frequency by opacity, no guide lines used
plotter.ontoplot(ontology="ontology", root_node="HP:0000118", reference_node="HP:0000118", dpi = 300, height=800, width=800, title=f"Profiles signature", mode = "dynamic", freq_by="alpha", fix_alpha="none", guide_lines="none")

Static ontoplot, frequency by size and opacity, opacity low values fixed by cubic root, guide lines set by ontology term points
plotter.ontoplot(ontology="ontology", root_node="HP:0000118", reference_node="HP:0000118", dpi = 300, height=800, width=800, title=f"Profiles signature", mode = "static", freq_by="both", fix_alpha="bins", guide_lines="ont")

Static ontoplot, frequency by size, guide lines set by concentric lines at each level of the ontology
plotter.ontoplot(ontology="ontology", root_node="HP:0000118", reference_node="HP:0000118", dpi = 300, height=800, width=800, title=f"Profiles signature", mode = "static", freq_by="size", fix_alpha="none", guide_lines="grid")

Static ontoplot, frequency by opacity, no guide lines used
plotter.ontoplot(ontology="ontology", root_node="HP:0000118", reference_node="HP:0000118", dpi = 300, height=800, width=800, title=f"Profiles signature", mode = "static", freq_by="alpha", fix_alpha=lambda x: x**(1/3), guide_lines="none")

Dynamic ontoplot centered in HP:0012443 (Abnormal brain morphology), using childs of HP:0012443 as main branches colors, frequency by size and opacity, opacity low values fixed by cubic root, guide lines set by ontology term points
plotter.ontoplot(ontology="ontology", root_node="HP:0012443", reference_node="HP:0012443", dpi = 300, height=800, width=800, title=f"Profiles signature", mode = "dynamic", freq_by="both", fix_alpha="cubic_root", guide_lines="ont")

Canvasxpress ontoplot, frequency by size (only mode), guide lines set by ontology term points
plotter.ontoplot(ontology="ontology", root_node="HP:0000118", reference_node="HP:0000118", dpi = 300, height=700, width=1400, title=f"Profiles signature", mode = "canvas", freq_by="size", fix_alpha="none", guide_lines="ont")


Canvasxpress ontoplot, frequency by size (only mode), guide lines set by concentric lines at each level of the ontology
plotter.ontoplot(ontology="ontology", root_node="HP:0000118", reference_node="HP:0000118", dpi = 300, height=700, width=1400, title=f"Profiles signature", mode = "canvas", freq_by="size", fix_alpha="none", guide_lines="grid")


Canvasxpress ontoplot. Adding a config as an argument to change any canvas configuration parameter
plotter.ontoplot(ontology="ontology", root_node="HP:0000118", reference_node="HP:0000118", dpi = 300, height=700, width=1400, title=f"Profiles signature", mode = "canvas", freq_by="size", fix_alpha="none", guide_lines="grid", config={"sizeStep": 5})


Dynamic ontoplot. Defining custom config and layout for plotly (dict can also be expressed as { } form) and point sizes (base size and scaling factors to frequency)
plotter.ontoplot(ontology="ontology", root_node="HP:0000118", reference_node="HP:0000118", dpi = 300, height=1800, width=2400, title=f"Profiles signature", mode = "dynamic", freq_by="both", fix_alpha="none", guide_lines="ont", plotly_layout=dict(legend=dict(font=dict(size=24)), polar=dict(radialaxis=dict(tickfont=dict(size=24)))), config={'toImageButtonOptions': {'format': 'png', 'height': 1800, 'width': 2400, 'scale': 5}}, user_sizes={'ont_size': 3, 'prof_base_size': 5, 'prof_size_factor': 40})